Nancy M. Medina

Ramos Mejia, B, Argentina

Last Updated: 09/26/2026

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Found 12 publications

Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.

Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.

Journal: European journal of medical genetics

Published: December 11, 2020

The odyssey of complex neurogenetic disorders: From undetermined to positive.

The odyssey of complex neurogenetic disorders: From undetermined to positive.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 31, 2020

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.

Journal: Journal of human genetics

Published: April 15, 2020

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.

Journal: Annals of human genetics

Published: December 26, 2018

Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.

Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.

Journal: American journal of medical genetics. Part A

Published: November 17, 2018

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

Journal: European journal of medical genetics

Published: July 25, 2018

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Journal: PloS one

Published: July 19, 2017

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

Journal: PloS one

Published: June 21, 2017

Timely diagnosis of Wilson's disease using whole exome sequencing.

Timely diagnosis of Wilson's disease using whole exome sequencing.

Journal: Parkinsonism & related disorders

Published: July 05, 2015

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Journal: Genetics research

Published: May 21, 2015

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Journal: PloS one

Published: June 06, 2014

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.

Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.

Journal: Clinical genetics

Published: March 18, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026